HGVS | Genome Assembly |
---|---|
NC_000023.11:g.8731697C>G , CM000685.2:g.8731697C>G | GRCh38 |
NC_000023.10:g.8699738C>G , CM000685.1:g.8699738C>G | GRCh37 |
NC_000023.9:g.8659738C>G | NCBI36 |
NG_007088.1:g.5490G>C | |
NG_007088.2:g.5490G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262648.8:c.207+133G>C MANE Select | ENSP00000262648.3:n.207+133G>C | |
ENST00000262648.7:c.207+133G>C | ENSP00000262648.3:n.207+133G>C | |
ENST00000619786.1:c.204+133G>C | ENSP00000478734.1:n.204+133G>C | |
NM_000216.2:c.207+133G>C | NP_000207.2:n.207+133G>C | |
XM_005274501.3:c.207+133G>C | XP_005274558.1:n.207+133G>C | |
NM_000216.3:c.207+133G>C | NP_000207.2:n.207+133G>C | |
XM_005274501.4:c.207+133G>C | XP_005274558.1:n.207+133G>C | |
NM_000216.4:c.207+133G>C MANE Select | NP_000207.2:n.207+133G>C |